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D. Godler · SciRah

Researcher profile · Semantic Scholar

D. Godler

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D. Godler — researcher profile on SciRah

h-index: 21
Works: 70
Citations: 1,131

Most-cited papers

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
D. Godler, F. Tassone, D. Loesch, Annette K. Taylor +9 more
2010Human Molecular Genetics109 citations Open access
Semantic Scholar
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism
D. Loesch, D. Godler, Andrew H. Evans, Q. M. Bui +11 more
2011Genetics in Medicine70 citations Open access
Semantic Scholar
Epigenetics of fragile X syndrome and fragile X‐related disorders
C. Kraan, D. Godler, D. Amor
2018Developmental Medicine & Child Neurology63 citations Open access
Semantic Scholar
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Yoshimi Inaba, C. Schwartz, Q. M. Bui, Xin Li +11 more
2014Clinical Chemistry56 citations
Semantic Scholar
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles.
D. Godler, H. Slater, Q. M. Bui, M. Ono +6 more
2011Journal of Molecular Diagnostics45 citations Open access
Semantic Scholar
Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.
D. Godler, H. Slater, Q. M. Bui, E. Storey +9 more
2012Clinical Chemistry40 citations Open access
Semantic Scholar
Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
Emma K. Baker, Marta Arpone, S. A. Vera, L. Bretherton +19 more
2019Journal of Neurodevelopmental Disorders37 citations Open access
Semantic Scholar
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women
K. Cornish, C. Kraan, Q. M. Bui, M. Bellgrove +10 more
2015Neurology33 citations Open access
Semantic Scholar
White matter microstructure, cognition, and molecular markers in fragile X premutation females
Annie L. Shelton, K. Cornish, D. Godler, Q. M. Bui +2 more
2017Neurology32 citations
Semantic Scholar
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow
D. Godler, Ling Ling, Dinusha Gamage, Emma K. Baker +18 more
2022JAMA Network Open31 citations Open access
Semantic Scholar
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
S. Aliaga, H. Slater, D. Francis, D. du Sart +10 more
2016Clinical Chemistry30 citations Open access
Semantic Scholar
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
Emma K. Baker, Marta Arpone, S. Aliaga, L. Bretherton +20 more
2019Molecular Autism29 citations Open access
Semantic Scholar
Preliminary evidence of an effect of cerebellar volume on postural sway in FMR1 premutation males
R. Birch, D. Hocking, K. Cornish, J. Menant +6 more
2015Genes, Brain and Behavior27 citations Open access
Semantic Scholar
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes
Emma K. Baker, D. Godler, Minh Q. Bui, C. Hickerton +4 more
2018Journal of Neurodevelopmental Disorders24 citations Open access
Semantic Scholar
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report
Y. Hwang, S. Aliaga, M. Arpone, D. Francis +8 more
2016American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Linking the FMR1 Alleles with Small CGG Expansions with Neurodevelopmental Disorders: Preliminary Data suggest an involvement of Epigenetic Mechanisms
D. Loesch, D. Godler, M. S. Khaniani, E. Gould +7 more
2009American Journal of Medical Genetics. Part A24 citations Open access
Semantic Scholar
Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing
S. N. Hartin, W. Hossain, D. Francis, D. Godler +2 more
2019Molecular Genetics & Genomic Medicine23 citations Open access
Semantic Scholar
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts
C. Kraan, Q. M. Bui, M. Field, A. Archibald +11 more
2018Genetics in Medicine23 citations Open access
Semantic Scholar
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
D. Godler, Yoshimi Inaba, E. Shi, C. Skinner +8 more
2013Human Molecular Genetics22 citations Open access
Semantic Scholar
Fragile X–related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study
Yoshimi Inaba, A. Herlihy, C. Schwartz, C. Skinner +16 more
2012Genetics in Medicine22 citations Open access
Semantic Scholar
Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders
Emma K. Baker, M. Butler, S. N. Hartin, Ling Ling +8 more
2020Translational Psychiatry21 citations Open access
Semantic Scholar
Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation.
D. Hocking, R. Birch, Q. M. Bui, J. Menant +7 more
2017Neurobiology of Aging19 citations Open access
Semantic Scholar
Delineation of the working memory profile in female FMR1 premutation carriers: the effect of cognitive load on ocular motor responses.
Annie L. Shelton, K. Cornish, D. Godler, M. Clough +3 more
2015Behavioural Brain Research19 citations
Semantic Scholar
Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
Marta Arpone, Emma K. Baker, L. Bretherton, Minh Q. Bui +15 more
2018Scientific Reports18 citations Open access
Semantic Scholar
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis
D. Godler, Yoshimi Inaba, C. Schwartz, Q. M. Bui +10 more
2015Expert Reviews in Molecular Medicine18 citations Open access
Semantic Scholar
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
Emma K. Baker, Marta Arpone, C. Kraan, Minh Q. Bui +16 more
2020Scientific Reports16 citations Open access
Semantic Scholar
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing
M. Field, T. Dudding-Byth, Marta Arpone, Emma K. Baker +11 more
2019International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome
C. Kraan, Emma K. Baker, M. Arpone, Minh Q. Bui +11 more
2020International Journal of Molecular Sciences14 citations Open access
Semantic Scholar
Genetics of Prader–Willi and Angelman syndromes: 2024 update
D. Godler, Deepan Singh, M. G. Butler
2024Current Opinion in Psychiatry13 citations
Semantic Scholar
DNA methylation analysis for screening and diagnostic testing in neurodevelopmental disorders.
D. Godler, D. Amor
2019Essays in Biochemistry13 citations
Semantic Scholar
Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders
D. Godler, D. Loesch, R. Huggins, L. Gordon +4 more
2009BMC Clinical Pathology12 citations Open access
Semantic Scholar
Abnormally Methylated FMR1 in Absence of a Detectable Full Mutation in a U.S.A Patient Cohort Referred for Fragile X Testing
C. Hensel, R. Vanzo, Megan M. Martin, Ling Ling +8 more
2019Scientific Reports11 citations Open access
Semantic Scholar
Selective subcortical contributions to gait impairments in males with the FMR1 premutation
R. Birch, D. Hocking, K. Cornish, J. Menant +6 more
2016Journal of Neurology Neurosurgery & Psychiatry11 citations Open access
Semantic Scholar
Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome
D. Godler, H. Slater, D. Amor, D. Loesch
2010Genetics in Medicine11 citations Open access
Semantic Scholar
Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years.
S. Hartmanis, Emma K. Baker, D. Godler, D. Liew
2022Disability and Health Journal10 citations Open access
Semantic Scholar
β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles
C. Kraan, K. Cornish, Q. M. Bui, X. Li +2 more
2016Scientific Reports10 citations Open access
Semantic Scholar
Evidence linking FMR1 mRNA and attentional demands of stepping and postural control in women with the premutation.
D. Hocking, C. Kraan, D. Godler, Q. M. Bui +10 more
2015Neurobiology of Aging10 citations
Semantic Scholar
Genomic Screening Consortium for Australian Newborns (GenSCAN)
Natalie Taylor, Michelle Pirreca, Bruce Bennetts, Gladys Ho +15 more
2025Journal of Paediatrics and Child Health9 citations Open access
Semantic Scholar
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
Emma K. Baker, Marta Arpone, Minh Q. Bui, C. Kraan +14 more
2022American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Feasibility of wearable technology for 'real-world' gait analysis in children with Prader-Willi and Angelman syndromes.
C. Kraan, P. Date, A. Rattray, Morgan Sangeux +5 more
2022Journal of Intellectual Disability Research9 citations
Semantic Scholar
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction
Z. Stark, D. Francis, L. Gaffney, Jacqueline Greenberg +4 more
2015American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction
Yael Prawer, M. Hunter, Sara Cronin, Ling Ling +7 more
2018Genes8 citations Open access
Semantic Scholar
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia
Y. Hwang, T. Dudding, S. Aliaga, M. Arpone +8 more
2016Genes8 citations Open access
Semantic Scholar
Parathyroid hormone-related peptide expression in rat collagen-induced arthritis.
D. Godler, A. N. Stein, O. Bakharevski, M. Lindsay +1 more
2005Rheumatology8 citations Open access
Semantic Scholar
Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects
Emma K. Baker, Catherine F. Merton, W. Tan, T. Dudding-Byth +2 more
2022European Journal of Medical Genetics7 citations Open access
Semantic Scholar
Growth Trajectories in Genetic Subtypes of Prader–Willi Syndrome
D. A. Shepherd, N. Vos, S. Reid, D. Godler +3 more
2020Genes7 citations Open access
Semantic Scholar
Reduced caudate volume and cognitive slowing in men at risk of fragile X-associated tremor ataxia syndrome
R. Cvejic, D. Hocking, W. Wen, N. Georgiou-Karistianis +4 more
2018Brain Imaging and Behavior7 citations Open access
Semantic Scholar
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia
Emma K. Baker, S. Arora, D. Amor, P. Date +8 more
2021Journal of Autism and Developmental Disorders6 citations
Semantic Scholar
Methylation analysis in newborn screening for fragile X syndrome.
D. Godler, D. Amor, H. Slater
2014JAMA Neurology6 citations
Semantic Scholar
Special Issue: Genetics of Prader–Willi Syndrome
D. Godler, M. Butler
2021Genes5 citations Open access
Semantic Scholar

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